Orphanet: Congenital alpha2 antiplasmin deficiency
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Congenital alpha2-antiplasmin deficiency

Disease definition

Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

ORPHA:79

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D68.8
  • OMIM: 262850
  • UMLS: -
  • MeSH: -
  • GARD: 731
  • MedDRA: -
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